JAMES LUPSKI to Humans
This is a "connection" page, showing publications JAMES LUPSKI has written about Humans.
Connection Strength
4.079
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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238.
Score: 0.026
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
Score: 0.025
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413.
Score: 0.024
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Genomics in Clinical Practice. N Engl J Med. 2023 Apr 27; 388(17):1619-1620.
Score: 0.023
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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188.
Score: 0.023
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.023
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 12 01; 109(12):2270-2282.
Score: 0.023
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924.
Score: 0.022
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Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. Trends Genet. 2022 06; 38(6):554-571.
Score: 0.022
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
Score: 0.021
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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 02; 188(2):648-657.
Score: 0.021
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
Score: 0.021
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Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A. 2021 11; 185(11):3294-3313.
Score: 0.021
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460.
Score: 0.021
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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
Score: 0.020
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Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 04; 185(4):1288-1293.
Score: 0.020
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002.
Score: 0.020
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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 10 01; 143(10):e83.
Score: 0.020
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.019
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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80.
Score: 0.019
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 08 01; 104(8):3049-3067.
Score: 0.018
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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 08; 6(8):1395-1406.
Score: 0.018
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.018
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A Human in Human Genetics. Cell. 2019 03 21; 177(1):9-15.
Score: 0.018
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2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements. Am J Hum Genet. 2019 03 07; 104(3):391-406.
Score: 0.018
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.018
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Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Res. 2018 08; 28(8):1228-1242.
Score: 0.017
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 08; 26(8):1121-1131.
Score: 0.017
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.017
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Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018 03; 93(3):439-449.
Score: 0.016
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 06; 101(1):149-156.
Score: 0.016
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.015
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.015
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.015
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
Score: 0.015
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Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 06; 135(6):591-601.
Score: 0.015
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.014
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Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 Apr; 17(4):224-38.
Score: 0.014
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016 Feb; 126(2):762-78.
Score: 0.014
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-234.
Score: 0.014
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Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet. 2016 Feb; 135(2):253-6.
Score: 0.014
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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 Dec; 11(12):e1005686.
Score: 0.014
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat. 2016 Feb; 37(2):160-4.
Score: 0.014
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513.
Score: 0.014
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Non-coding genetic variants in human disease. Hum Mol Genet. 2015 Oct 15; 24(R1):R102-10.
Score: 0.014
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Cognitive phenotypes and genomic copy number variations. JAMA. 2015 May 26; 313(20):2029-30.
Score: 0.014
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77.
Score: 0.013
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Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 Jul; 31(7):382-92.
Score: 0.013
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Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 2015 06; 56(5):419-36.
Score: 0.013
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Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 Sep; 167A(9):2132-7.
Score: 0.013
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.013
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Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 Jan; 100(1):E140-7.
Score: 0.013
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34.
Score: 0.013
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Charcot-Marie-Tooth disease and pathways to molecular based therapies. Clin Genet. 2014 Nov; 86(5):422-31.
Score: 0.013
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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.013
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Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014 Mar 06; 94(3):462-9.
Score: 0.012
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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet. 2014 Sep; 22(9):1145-8.
Score: 0.012
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
Score: 0.012
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Genetics. Genome mosaicism--one human, multiple genomes. Science. 2013 Jul 26; 341(6144):358-9.
Score: 0.012
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Molecular and genetic bases of disease. Curr Opin Genet Dev. 2013 Jun; 23(3):229-31.
Score: 0.012
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Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. Am J Med Genet A. 2013 Jul; 161A(7):1561-8.
Score: 0.012
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94.
Score: 0.012
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Digenic inheritance and Mendelian disease. Nat Genet. 2012 Dec; 44(12):1291-2.
Score: 0.011
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Brain copy number variants and neuropsychiatric traits. Biol Psychiatry. 2012 Oct 15; 72(8):617-9.
Score: 0.011
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Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic. Genet Med. 2013 Mar; 15(3):172-3.
Score: 0.011
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Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet. 2012 Dec; 131(12):1895-910.
Score: 0.011
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Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54.
Score: 0.011
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Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet. 2012 Jul 15; 21(14):3083-96.
Score: 0.011
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Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev. 2012 Jun; 22(3):211-20.
Score: 0.011
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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012 Mar; 14(3):313-22.
Score: 0.011
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What have studies of genomic disorders taught us about our genome? Methods Mol Biol. 2012; 838:1-27.
Score: 0.011
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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet. 2011 Oct 07; 89(4):580-8.
Score: 0.011
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81.
Score: 0.011
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Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43.
Score: 0.011
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Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet. 2012 Jun; 81(6):532-41.
Score: 0.010
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Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med. 2011 Jun; 13(6):582-92.
Score: 0.010
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Genomic medicine and neurological disease. Hum Genet. 2011 Jul; 130(1):103-21.
Score: 0.010
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.010
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Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst Biol Reprod Med. 2011 Feb; 57(1-2):3-16.
Score: 0.010
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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet. 2011 Mar; 129(3):319-27.
Score: 0.010
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New mutations and intellectual function. Nat Genet. 2010 Dec; 42(12):1036-8.
Score: 0.010
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Interruption of SOX10 function in myelinopathies. Ann Neurol. 2010 Aug; 68(2):121-3.
Score: 0.010
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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics. 2010 Oct; 11(4):465-70.
Score: 0.010
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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11; 86(6):892-903.
Score: 0.010
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Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A. 2010 May; 152A(5):1101-10.
Score: 0.010
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Personal genome research : what should the participant be told? Trends Genet. 2010 May; 26(5):199-201.
Score: 0.010
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.009
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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12; 86(3):462-70.
Score: 0.009
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Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A. 2010 Jan 26; 107 Suppl 1:1765-71.
Score: 0.009
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Structural variation in the human genome and its role in disease. Annu Rev Med. 2010; 61:437-55.
Score: 0.009
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.009
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Complex human chromosomal and genomic rearrangements. Trends Genet. 2009 Jul; 25(7):298-307.
Score: 0.009
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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet. 2009 Jul; 41(7):849-53.
Score: 0.009
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203.
Score: 0.009
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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009 Jun 01; 18(11):1924-36.
Score: 0.009
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Charcot-Marie-Tooth disease. Eur J Hum Genet. 2009 Jun; 17(6):703-10.
Score: 0.009
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CNV and nervous system diseases--what's new? Cytogenet Genome Res. 2008; 123(1-4):54-64.
Score: 0.009
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Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? Clin Genet. 2009 Apr; 75(4):394-400.
Score: 0.009
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A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet. 2009 Jan; 5(1):e1000327.
Score: 0.009
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Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009; 10:451-81.
Score: 0.009
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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2009 Sep; 46(9):626-34.
Score: 0.009
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Schizophrenia: Incriminating genomic evidence. Nature. 2008 Sep 11; 455(7210):178-9.
Score: 0.009
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Copy number variation at the breakpoint region of isochromosome 17q. Genome Res. 2008 Nov; 18(11):1724-32.
Score: 0.008
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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007 Dec 28; 131(7):1235-47.
Score: 0.008
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Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn. 2007 Dec; 27(12):1112-7.
Score: 0.008
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An evolution revolution provides further revelation. Bioessays. 2007 Dec; 29(12):1182-4.
Score: 0.008
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Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Acta Myol. 2007 Oct; 26(2):108-11.
Score: 0.008
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Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet. 2007 Dec 15; 16(24):3037-46.
Score: 0.008
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Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov; 8(4):257-62.
Score: 0.008
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Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007 Sep; 81(3):438-53.
Score: 0.008
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Genomic rearrangements and sporadic disease. Nat Genet. 2007 Jul; 39(7 Suppl):S43-7.
Score: 0.008
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SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet. 2007 May 15; 16(10):1143-56.
Score: 0.008
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Structural variation in the human genome. N Engl J Med. 2007 Mar 15; 356(11):1169-71.
Score: 0.008
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.008
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Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007 May; 121(3-4):433-9.
Score: 0.008
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63.
Score: 0.008
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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron. 2006 Oct 05; 52(1):103-21.
Score: 0.007
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Genome structural variation and sporadic disease traits. Nat Genet. 2006 Sep; 38(9):974-6.
Score: 0.007
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65.
Score: 0.007
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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006 Oct; 14(10):1074-81.
Score: 0.007
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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64.
Score: 0.007
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Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb; 8(2):86-92.
Score: 0.007
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Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med. 2006; 8(1-2):243-54.
Score: 0.007
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The genomic basis of disease, mechanisms and assays for genomic disorders. Genome Dyn. 2006; 1:1-16.
Score: 0.007
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Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn. 2005 Dec; 25(13):1188-91.
Score: 0.007
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005 Dec; 1(6):e49.
Score: 0.007
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Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet. 2005 Nov; 77(5):841-50.
Score: 0.007
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ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005 Oct 01; 14(19):2769-78.
Score: 0.007
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SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr; 25(4):372-83.
Score: 0.007
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35.
Score: 0.007
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nat Commun. 2025 Feb 17; 16(1):1703.
Score: 0.007
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TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies. J Med Genet. 2025 Jan 27; 62(2):126-137.
Score: 0.007
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The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity. Cell Rep. 2025 Jan 28; 44(1):115156.
Score: 0.007
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Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet. 2005 Feb 15; 14(4):535-42.
Score: 0.007
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Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol. 2005 Jan; 43(1):199-207.
Score: 0.007
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Monoallelic expression can govern penetrance of inborn errors of immunity. Nature. 2025 Jan; 637(8048):1186-1197.
Score: 0.007
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
Score: 0.007
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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations. Genome Med. 2024 Dec 03; 16(1):143.
Score: 0.007
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Increased blood-brain barrier permeability with thymidine phosphorylase deficiency. Ann Neurol. 2004 Dec; 56(6):881-6.
Score: 0.007
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Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res. 2004 Nov; 14(11):2209-20.
Score: 0.007
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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581.
Score: 0.007
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Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet. 2005 Jan; 116(1-2):1-7.
Score: 0.007
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Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet. 2004 Nov 01; 13(21):2613-24.
Score: 0.006
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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004 Nov; 115(6):515-24.
Score: 0.006
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Hotspots of homologous recombination in the human genome: not all homologous sequences are equal. Genome Biol. 2004; 5(10):242.
Score: 0.006
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
Score: 0.006
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.
Score: 0.006
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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome Med. 2024 Sep 13; 16(1):112.
Score: 0.006
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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun. 2024 Aug 22; 15(1):7239.
Score: 0.006
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36.
Score: 0.006
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Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circ Genom Precis Med. 2024 Aug; 17(4):e004614.
Score: 0.006
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.006
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369.
Score: 0.006
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 05 30; 16(1):72.
Score: 0.006
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Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet. 2004 Jul; 75(1):75-81.
Score: 0.006
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Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 08; 9(9).
Score: 0.006
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Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 Apr 30; 121(18):e2310283121.
Score: 0.006
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Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet. 2004 Jun; 115(1):1-7.
Score: 0.006
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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 04 16; 17(1):85.
Score: 0.006
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 Apr 04; 147(4):1436-1456.
Score: 0.006
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
Score: 0.006
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 Jun 03; 221(6).
Score: 0.006
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125.
Score: 0.006
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Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia. 2024 May; 65(5):1439-1450.
Score: 0.006
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A girl with duplication 17p10-p12 associated with a dicentric chromosome. Am J Med Genet A. 2004 Jan 15; 124A(2):173-8.
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Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. J Allergy Clin Immunol. 2024 01; 153(1):216-229.
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Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82.
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
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Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 Mar; 50(3):1336-43.
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The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
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The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am J Med Genet A. 2008 Apr 01; 146A(7):917-24.
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Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet. 2007 Nov 01; 16(21):2560-71.
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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.
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Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet. 2007 Jul; 3(7):e119.
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41.
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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 05; 448(7149):68-72.
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Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug; 122(1):63-70.
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Completing the map of human genetic variation. Nature. 2007 May 10; 447(7141):161-5.
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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327.
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Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32.
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AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res. 2007 Apr; 17(4):451-60.
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet. 2007 Jan; 71(1):67-75.
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet. 2006 Nov; 79(5):890-902.
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Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A. 2006 Jul 15; 140(14):1531-41.
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Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37.
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20; 440(7087):1045-9.
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Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Invest Ophthalmol Vis Sci. 2006 Apr; 47(4):1486-90.
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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A. 2006 Mar 01; 140(5):442-52.
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Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol. 2006 Feb; 59(2):398-403.
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Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype. Am J Med Genet A. 2005 Dec 01; 139A(2):136-40.
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Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum Genet. 2005 Nov; 118(2):267-75.
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Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet. 2005 Dec 15; 14(24):3865-75.
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Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A. 2005 Oct 01; 138A(2):175-80.
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Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet A. 2005 Sep 15; 138(1):11-7.
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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005 Sep; 7(7):479-83.
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Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis. Am J Hematol. 2005 Aug; 79(4):309-13.
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32.
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet. 2005 Apr; 42(4):358-65.
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Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature. 2005 Mar 03; 434(7029):108-13.
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Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas. Pediatr Infect Dis J. 2005 Mar; 24(3):201-6.
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Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet. 2005 Apr; 76(4):652-62.
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Low factor XII level in an individual with Sotos syndrome. Pediatr Blood Cancer. 2005 Feb; 44(2):187-9.
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Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). Nucleic Acids Res. 2005; 33(1):289-97.
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An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005 Jan 11; 64(1):142-4.
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Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004 Sep; 36(9):994-8.
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SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 2004 Aug 10; 63(3):577-80.
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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004 Feb; 41(2):125-9.
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Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004 Jan 15; 124A(2):179-91.
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Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum Mol Genet. 2004 Feb 15; 13(4):367-78.
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Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int. 2003 Dec; 19(11):725-8.
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The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet. 2004 Jan; 74(1):1-10.
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Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003 Nov; 22(5):395-403.
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Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003 Nov; 40(11):854-7.
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Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol. 2003 Jul; 139(7):916-20.
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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003 Mar; 126(Pt 3):590-7.
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar; 72(3):650-8.
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Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol. 2002 Dec; 52(6):836-42.
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Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign. J Clin Microbiol. 2002 Oct; 40(10):3565-71.
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Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol. 2002 Jun; 51(6):709-15.
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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul; 71(1):22-9.
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Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development. Mol Cell Biol. 2002 May; 22(10):3518-26.
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Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med. 2002 May-Jun; 4(3):118-25.
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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002 Apr; 70(4):955-64.
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Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci. 2002 Feb; 43(2):466-73.
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002 Feb; 30(2):215-20.
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DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol. 2002; 61:124-30.
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Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat Diagn. 2001 Dec; 21(13):1133-6.
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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001 Nov; 109(5):535-41.
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Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet. 2001 Oct 01; 10(20):2293-9.
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Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet. 2001 Aug 01; 102(2):173-82.
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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001 Jun; 11(6):1018-33.
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Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites. Mamm Genome. 2001 Apr; 12(4):326-8.
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Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res. 2001 Feb; 11(2):208-17.
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Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve. 2000 Feb; 23(2):182-8.
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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. 1999 Sep 14; 883:457-9.
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Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2. Genomics. 1999 Aug 01; 59(3):339-41.
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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology. 1999 Jun 10; 52(9):1827-32.
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Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3. Genomics. 1999 May 15; 58(1):106-8.
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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization. Prenat Diagn. 1999 May; 19(5):446-9.
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Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol. 1999 Mar; 20(3):226-32.
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Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999 Feb; 64(2):422-34.
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A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Genomics. 1999 Feb 01; 55(3):348-52.
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Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. Clin Genet. 1998 Nov; 54(5):413-6.
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Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet. 1998 Jun 16; 78(1):82-9.
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SERE, a widely dispersed bacterial repetitive DNA element. J Med Microbiol. 1998 Jun; 47(6):489-97.
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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. Am J Hum Genet. 1998 Apr; 62(4):904-15.
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Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli. Mol Microbiol. 1998 Feb; 27(4):739-50.
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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997 Sep 19; 277(5333):1805-7.
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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet. 1997 Jan; 34(1):43-9.
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Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet. 1996 Dec; 98(6):710-8.
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Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology. 1996 Jul; 103(7):1084-91.
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Epidemiology of infections due to multiresistant Enterobacter aerogenes in a university hospital. Eur J Clin Microbiol Infect Dis. 1996 Jun; 15(6):517-21.
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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007.
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Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 1996; 4(6):329-33.
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Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am J Med Genet. 1995 Nov 20; 59(3):406-7.
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Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. Am J Med Genet. 1995 Sep 11; 58(3):286-91.
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Molecular fingerprinting of Legionella species by repetitive element PCR. J Clin Microbiol. 1994 Dec; 32(12):2989-94.
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Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem. 1994 Oct 14; 269(41):25795-808.
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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50.
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Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet. 1994 Jun; 54(6):1110-21.
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Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet. 1994 May; 7(1):108-12.
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Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology. 1993 Dec; 43(12):2664-7.
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An additional case of pachygyria, joint contractures and facial abnormalities. Clin Dysmorphol. 1993 Oct; 2(4):365-8.
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Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet. 1993 Sep 15; 47(4):504-11.
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Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology. 1993 Sep; 43(9):1806-8.
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Penicillin-resistant Streptococcus pneumoniae strains recovered in Houston: identification and molecular characterization of multiple clones. J Infect Dis. 1993 Apr; 167(4):850-6.
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Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics. 1992 Jul; 13(3):551-9.
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun; 1(3):159-65.
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Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol. 1991 Oct; 30(4):605-10.
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Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 1991 Jan; 9(1):31-6.
Score: 0.001
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Three polymorphisms at the D17S29 locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4958.
Score: 0.001
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Structure and organization of genes for sporozoite surface antigens. Philos Trans R Soc Lond B Biol Sci. 1984 Nov 13; 307(1131):129-39.
Score: 0.000